A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363907



Internal ID5830583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56042883..56047985hg38UCSC Ensembl
Innerchr6:56042883..56047985hg38UCSC Ensembl
Outerchr6:56042570..56048335hg38UCSC Ensembl
chr6:55907681..55912783hg19UCSC Ensembl
Innerchr6:55907681..55912783hg19UCSC Ensembl
Outerchr6:55907368..55913133hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg385103
hg195103
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609087
Supporting Variants
SamplesNA19206
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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